Canonical Allele Identifier: CA971894261

Gene: FAH

Linked Data

• gnomAD v3: 15-80152775-AGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGG-A
• gnomAD v4: 15-80152775-AGGGGCGGGGCGGGGCTCTGGAAGGGCGGGCGAGACTGTGGAGGACCTGGAGCTGGCGGGGGTCAGGGTAGGGGGGAGGGGCAGGGCTCGGGGTTCGGGGGCGGGGTGTTCACGGTGAGACCAAAAGTCAGGTAGGAGCCTCCGGGGTCCCTGCTGTGTCACCCGGACAGGCCGTGGGGGCGGGCAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.80152786_80152972del , CM000677.2:g.80152786_80152972del	GRCh38
NC_000015.9:g.80445128_80445314del , CM000677.1:g.80445128_80445314del	GRCh37
NC_000015.8:g.78232183_78232369del	NCBI36
NG_012833.1:g.4788_4974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000558022.5:c.-29-240_-29-54del	ENSP00000453152.1:n.-29-240_-29-54del